John Libbey Eurotext

European Journal of Dermatology


An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis Volume 28, numéro 1, January-February 2018


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Oasi Institute for Research on Mental Retardation and Brain Aging(IRCCS) -
Via Conte Ruggero, 73 -
94018 Troina (En), Italy

A four-year-old blondish boy, second-born to non-consanguineous parents and diagnosed with mild intellectual disability by our clinicians, was examined due to numerous macules all over the skin which had been present since his first year of life. An evident achromic triangular spot was observed on the forehead along with a very small white tuft of eyebrow hair and a number of achromic macules which were located to the periumblical region, forearms, knees, and popliteal area. Within these achromic [...]